| 000 | 01718 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250517113824.0 | ||
| 264 | 0 | _c20170602 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12861 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCohen, J S | |
| 245 | 0 | 0 |
_aFurther evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. _h[electronic resource] |
| 260 |
_bClinical genetics _cMay 2017 |
||
| 300 |
_a697-707 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 1 _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHaploinsufficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 700 | 1 | _aSrivastava, S | |
| 700 | 1 | _aFarwell Hagman, K D | |
| 700 | 1 | _aShinde, D N | |
| 700 | 1 | _aHuether, R | |
| 700 | 1 | _aDarcy, D | |
| 700 | 1 | _aWallerstein, R | |
| 700 | 1 | _aHouge, G | |
| 700 | 1 | _aBerland, S | |
| 700 | 1 | _aMonaghan, K G | |
| 700 | 1 | _aPoretti, A | |
| 700 | 1 | _aWilson, A L | |
| 700 | 1 | _aChung, W K | |
| 700 | 1 | _aFatemi, A | |
| 773 | 0 |
_tClinical genetics _gvol. 91 _gno. 5 _gp. 697-707 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12861 _zAvailable from publisher's website |
| 999 |
_c26392944 _d26392944 |
||